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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 35154

FusionGeneSummary for SNIP1_COL1A2

check button Fusion gene summary
Fusion gene informationFusion gene name: SNIP1_COL1A2
Fusion gene ID: 35154
HgeneTgene
Gene symbol

SNIP1

COL1A2

Gene ID

79753

1278

Gene nameSmad nuclear interacting protein 1collagen type I alpha 2 chain
SynonymsPML1|PMREDEDSARTH2|EDSCV|OI4
Cytomap

1p34.3

7q21.3

Type of geneprotein-codingprotein-coding
Descriptionsmad nuclear-interacting protein 1FHA domain-containing protein SNIP1PML1 homologcollagen alpha-2(I) chainalpha 2 type I procollagenalpha 2(I) procollagenalpha 2(I)-collagenalpha-2 type I collagencollagen I, alpha-2 polypeptidecollagen of skin, tendon and bone, alpha-2 chaincollagen, type I, alpha 2type I procollagen
Modification date2018052320180527
UniProtAcc

Q8TAD8

P08123

Ensembl transtripts involved in fusion geneENST00000296215, ENST00000468040, 
ENST00000297268, 
Fusion gene scores* DoF score4 X 3 X 3=3617 X 22 X 6=2244
# samples 422
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(22/2244*10)=-3.35049724708413
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SNIP1 [Title/Abstract] AND COL1A2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneCOL1A2

GO:0007179

transforming growth factor beta receptor signaling pathway

17217948

TgeneCOL1A2

GO:0007266

Rho protein signal transduction

17217948


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AU117270SNIP1chr1

38018088

-COL1A2chr7

94057673

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000296215ENST00000297268SNIP1chr1

38018088

-COL1A2chr7

94057673

+
intron-3CDSENST00000468040ENST00000297268SNIP1chr1

38018088

-COL1A2chr7

94057673

+

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FusionProtFeatures for SNIP1_COL1A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SNIP1

Q8TAD8

COL1A2

P08123

Down-regulates NF-kappa-B signaling by competing withRELA for CREBBP/EP300 binding. Involved in the microRNA (miRNA)biogenesis. May be involved in cyclin-D1/CCND1 mRNA stabilitythrough the SNARP complex which associates with both the 3'end ofthe CCND1 gene and its mRNA. {ECO:0000269|PubMed:11567019,ECO:0000269|PubMed:15378006, ECO:0000269|PubMed:18632581,ECO:0000269|PubMed:18794151}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for SNIP1_COL1A2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for SNIP1_COL1A2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SNIP1_COL1A2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCOL1A2P08123DB00048Collagenase clostridium histolyticumCollagen alpha-2(I) chainbiotechapproved|investigational

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RelatedDiseases for SNIP1_COL1A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSNIP1C3281055PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM1UNIPROT
TgeneCOL1A2C0268362Osteogenesis imperfecta type III (disorder)17CTD_human;ORPHANET;UNIPROT
TgeneCOL1A2C0268358Osteogenesis imperfecta, dominant perinatal lethal14CTD_human;ORPHANET;UNIPROT
TgeneCOL1A2C0268363Osteogenesis imperfecta type IV (disorder)11CTD_human;ORPHANET;UNIPROT
TgeneCOL1A2C0023931Lobstein's Disease6ORPHANET;UNIPROT
TgeneCOL1A2C0000786Spontaneous abortion1CTD_human
TgeneCOL1A2C0016059Fibrosis1CTD_human
TgeneCOL1A2C0018824Heart valve disease1CTD_human
TgeneCOL1A2C0023890Liver Cirrhosis1CTD_human
TgeneCOL1A2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCOL1A2C0029172Oral Submucous Fibrosis1CTD_human
TgeneCOL1A2C0029408Degenerative polyarthritis1CTD_human
TgeneCOL1A2C0036421Systemic Scleroderma1CTD_human
TgeneCOL1A2C1857034Ehlers-Danlos syndrome, cardiac valvular form1CTD_human;ORPHANET